MUTATIONAL ANALYSIS OF ATP7B GENE IN CHINESE PATIENTS
WITH WILSON
DISEASE
XQ Liu, YF Zhang, RG. Chen, XF Gu
Xin Hua Hospital, Shanghai Second Medical University and Shanghai
Institute for Pediatric Research, China
Objective: ATP7B gene was
analysed in 58 Chinese patients with Wilson disease (WD), a genotype and
phenotype correlation were studied.
Methods: Exon 1~21 of ATP7B
gene mutations was conducted in 58 WD patients from 54 no kinship family by
using PCR-SSCP and DNA sequence analysis.
Result: 50/58 patients were
presented an hepatic symptom (86.21%), 12/50 patients were presented both
hepatic damage and neurological dysfunction (24%), 10/50 patients were
presented hepatic damage and other symptom (20%); 7/58 patients were
presented only neurological dysfunction (12.07%), one was an asymptomtic
patient. 19 of 21 exons were displayed an abnormal pattern on SSCP
analysis. Ten mutations were identified, those are four missense mutations（R778L,
G943S, V1106I and V1216M）, one deletion（1384del17）and
five polymorphisms （IVS4-5T/C, K/R832, L/L770, IVS18+6C/T and
IVS20+5A/G）. 52/116 allele were R778L with a frequency of
44.83%. The frequency of V1106I was 1.72% in this study, two patients carry
this mutation are late onset phenotype.
Conclusion:
1384del17bp and V1106I are two novel mutations,.G943S and V1216M were
firstly identified in Chinese WD patients. The mutation R778L in exon 8 of
WD gene may play an important role in pathogenesis of Wilson's disease in
Chinese.